Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 56 for Williams syndrome
  1. Williams syndrome 
    Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  2. 7q11.23 duplication syndrome 
    ... because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, ... novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 ...
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome - Genetics
  3. Angelman syndrome 
    ... 30273. Citation on PubMed Dagli AI, Mathews J, Williams CA. Angelman Syndrome. 1998 Sep 15 [updated 2021 Apr 22]. In: ... 10.1002/ajmg.a.31074. Citation on PubMed Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev. 2005 Mar;27(2):88-94. ...
    https://medlineplus.gov/genetics/condition/angelman-syndrome - Genetics
  4. Supravalvular aortic stenosis 
    ... proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Am J Hum Genet. 2002 Jul;71(1): ...
    https://medlineplus.gov/.../condition/supravalvular-aortic-stenosis - Genetics
  5. Smith-Magenis syndrome 
    ... 9.00034-8. Citation on PubMed Elsea SH, Williams SR. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  6. Alström syndrome 
    ... on PubMed Paisey RB, Steeds R, Barrett T, Williams D, Geberhiwot T, Gunay-Aygun M. Alstrom Syndrome. 2003 Feb 7 [updated 2019 Jun 13]. In: ...
    https://medlineplus.gov/genetics/condition/alstrom-syndrome - Genetics
  7. Sjögren-Larsson syndrome 
    ... WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function due to abnormal lamellar ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  8. Riboflavin transporter deficiency neuronopathy 
    ... Childs AM, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression ...
    https://medlineplus.gov/...lavin-transporter-deficiency-neuronopathy - Genetics
  9. Recombinant 8 syndrome 
    ... 7. Citation on PubMed Smith AC, Spuhler K, Williams TM, McConnell T, Sujansky E, Robinson A. Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  10. WAGR syndrome 
    ... Xu S, Han JC, Morales A, Menzie CM, Williams K, Fan YS. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to ...
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · next